Archive for the ‘SciLit’ Category

Encode-annotation interesting paper

Monday, April 14th, 2014

recent publication from the Donnelly group comparing using GENCODE or Refeq annotation when predicting variants effects.
Choice of transcripts and software has a large effect on variant annotation
Genome Medicine 2014, 6:26 doi:10.1186/gm543

Processed pseudogenes acquired somatically during cancer development

Saturday, April 12th, 2014

http://www.nature.com/ncomms/2014/140409/ncomms4644/full/ncomms4644.html

Access : Surfing the p53 network : Nature

Saturday, April 12th, 2014

Original article emphasizing the importance of networks to cancer

http://www.nature.com/nature/journal/v408/n6810/full/408307a0.html

A paper that was done by Vogelstein, Lane and Levine in Nature (2000, November 16) that talks about how cancer is associated with a network and these network of genes associated with p53. This is in response to the idea that p53 is such a crucial molecule in cancer as a tumor suppressor and it marks well known cancer biologists discussing this from a network perspective.

Three-Dimensional Genome Architecture Influences Partner Selection for Chromosomal Translocations in Human Disease

Thursday, April 10th, 2014

QT:"We show that many translocation-prone pairs of regions genome-wide, including the cancer translocation partners BCR-ABL and MYC-IGH, display elevated Hi-C contact frequencies in normal human cells."

Overlap of Hi-C & gene fusions

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0044196

Synonymous mutations as driver mutations for cancer

Thursday, April 10th, 2014

http://ac.els-cdn.com/S0092867414001457/1-s2.0-S0092867414001457-main.pdf?_tid=82c57e74-c01a-11e3-95b3-00000aacb35e&acdnat=1397070764_5c441e4c90a317cc7642b6873f888eb6

http://www.sciencedirect.com/science/article/pii/S0092867414001457

Developmental dynamics and disease potential of random monoallelic gene expression.

Sunday, April 6th, 2014

Developmental dynamics… of random monoallelic gene expression. #RNAseq on 100s of instances without causative SNPs

An analysis of differentiated cell lines.

http://www.cell.com/developmental-cell/abstract/S1534-5807(14)00057-4

The Transcription Factor Titration Effect Dictates Level of Gene Expression

Sunday, April 6th, 2014

Interesting study looking at the effect of gene duplication on TF binding
"…when a TF is shared among many binding sites, either due to multiple identical copies of a gene regulated by that TF or due to unrelated genes that also independently bind the TF, the correlation in occupancy between the binding sites will lead to a complex dosage response to that TF." http://www.cell.com/abstract/S0092-8674(14)00221-9

Genome-wide signals of positive selection in human evolution

Sunday, April 6th, 2014

http://genome.cshlp.org/content/early/2014/03/11/gr.164822.113.abstract

“We further demonstrate that the observed signatures of positive selection correlate better with the presence of regulatory sequences, as predicted by the ENCODE Project Consortium, than with the positions of amino acid substitutions. Our results suggest that adaptation was frequent in human evolution and provide support for the hypothesis of King and Wilson that adaptive divergence is primarily driven by regulatory changes.”

Similar to conclusion positive-section section in FunSeq paper

Finding the lost treasures in exome sequencing data

Sunday, April 6th, 2014

Finding lost treasures in #exome sequencing data. Mining off-target, often noncoding, reads from 1000G, TCGA, ESP, &c
http://www.ncbi.nlm.nih.gov/pubmed/23972387

paper on cancer driver genes in RECOMB 2014

Sunday, April 6th, 2014

paper from RECOMB 2014 might be interesting to you, which uses
hitting time in random walk to identify cancer drivers.

http://link.springer.com/chapter/10.1007%2F978-3-319-05269-4_23

HIT.nDRIVE: Multi-Driver Gene Prioritization based on Hitting Time

Raunak Shrestha, Ermin Hodzic, Jake Yeung, Kendric Wang, Thomas
Sauerwald, Phuong Dao, Shawn Anderson, Himisha Beltran, Mark A. Rubin,
Colin Collins, Gholamreza Haffari and S. Cenk Sahinalp.